Canonical Allele Identifier: CA3825476

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 1674480
• ClinVar RCV Id: RCV002208289
• dbSNP Id: rs140188270
• ExAC: 6:43488020 C / G
• gnomAD v2: 6-43488020-C-G
• gnomAD v3: 6-43520282-C-G
• gnomAD v4: 6-43520282-C-G
• MyVariant Identifiers: chr6:g.43488020C>G (hg19) ; chr6:g.43520282C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520282C>G , CM000668.2:g.43520282C>G	GRCh38
NC_000006.11:g.43488020C>G , CM000668.1:g.43488020C>G	GRCh37
NC_000006.10:g.43595998C>G	NCBI36
NG_028283.1:g.8244C>G
NG_028283.3:g.15581C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.510C>G	ENSP00000496683.1:p.Thr170=
ENST00000642195.1:c.510C>G MANE Select	ENSP00000496044.1:p.Thr170=
ENST00000643341.1:c.510C>G	ENSP00000496018.1:p.Thr170=
ENST00000643799.1:c.510C>G	ENSP00000494529.1:p.Thr170=
ENST00000645141.1:c.*121C>G	ENSP00000496755.1:n.*121C>G
ENST00000646188.1:c.345C>G	ENSP00000496001.1:p.Thr115=
ENST00000646433.1:c.510C>G	ENSP00000494368.1:p.Thr170=
ENST00000646700.1:c.510C>G	ENSP00000495521.1:p.Thr170=
ENST00000304004.7:c.510C>G	ENSP00000307212.3:p.Thr170=
ENST00000372344.6:c.510C>G	ENSP00000361419.2:p.Thr170=
ENST00000372389.7:c.510C>G	ENSP00000361465.3:p.Thr170=
ENST00000423780.1:c.388C>G
ENST00000428025.6:c.345C>G	ENSP00000395401.2:p.Thr115=
ENST00000455605.2:n.803C>G
ENST00000481352.6:n.882C>G
ENST00000488601.6:n.749C>G
NM_203290.2:c.510C>G	NP_976035.1:p.Thr170=
XM_005249491.1:c.510C>G	XP_005249548.1:p.Thr170=
XM_011515000.1:c.510C>G	XP_011513302.1:p.Thr170=
NM_001318876.1:c.510C>G	NP_001305805.1:p.Thr170=
NM_001363658.1:c.510C>G	NP_001350587.1:p.Thr170=
NM_203290.3:c.510C>G	NP_976035.1:p.Thr170=
NM_203290.4:c.510C>G MANE Select	NP_976035.1:p.Thr170=
NM_001363658.2:c.510C>G	NP_001350587.1:p.Thr170=
NM_001318876.2:c.510C>G	NP_001305805.1:p.Thr170=